Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000051.4

p.I10S

c.29T>G

Surrounding Variants

1 paper

NM_000051.4

p.I10N

c.29T>A

5 papers

NM_000051.4

p.I10insFs

c.29_30insA

1 paper

NM_000051.4

p.I10insFs

c.28_29insT

1 paper

NM_000051.4

p.I10V

c.28A>G

1 paper

NM_000051.4

p.I10F

c.28A>T

1 paper

NM_000051.4

p.I10fs

c.28_29fs

2 papers

NM_000051.4

p.I10_C11insFs

c.30_31insT

1 paper

NM_000051.4

p.I10M

c.30C>G

1 paper

NM_000051.4

p.C11_Q14delFs

c.31_41del11

1 paper

NM_000051.4

p.C11_R23del13

c.31_68del39

1 paper

NM_000051.4

p.C11S

c.31T>A

6 papers

NM_000051.4

p.I10insFs

c.28_29insA